Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease

Abstract

Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. Method: We sampled 100 PD patients and 100 age-and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). Results: No G2019S mutations were found in both patients with sporadic PD and controls. Conclusions: Our results may be explained by the relatively small sample size.Keywords: Parkinson's disease, LRRK2, genetics. RESUMOMutação no gene LRRK2, predominantemente G2019S, foi descrita em indivíduos com doença de Parkinson (DP) esporádica ou herança autossômica dominante. A penetrância da mutação varia com a idade e há evidências de ancestral comum. As manifestações clínicas são indistinguíveis da DP idiopática. Sua prevalência depende da população estudada e varia de 0,1% em asiáticos a 41% em árabes do norte africano. O objetivo desse estudo foi identificar a mutação G2019S em brasileiros com DP esporádica. Método: Foram testados 100 pacientes com DP e 100 controles pareados por idade e sexo. A análise genética foi realizada pela reação em cadeia por polimerização (PCR). Resultados: Não foi encontrada a mutação G2019S nem nos pacientes com DP nem nos controles. Conclusão: É possível que nossos resultados sejam devidos ao pequeno número de pacientes incluídos.Palavras-chave: doença de Parkinson, LRRK2, genética.

LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson’s Disease

“…In Europe, the frequency of G2019S mutation appears to be relatively higher in southern countries particularly in Portugal and Spain with 2–14% of PD cases, than in northern countries with 0–3% [9–13] suggesting a European north-south gradient. The presence of G2019S in PD patients is very rare in Asian populations with a frequency less than 0.1% in China, Japan, Korea, and India, whereas it can reach 1–3% in white North American population [8, 10, 11, 14]. However, none of black PD patients from Nigeria and South Africa seems to carry the G2019S mutation [15, 16].…”

LRRK2 deficiency impacts ceramide metabolism in brain

“…LRRK2 is a large multi-domain protein exhibiting both GTPase and kinase activities, and the most common PD-linked G2019S mutation shows a three-fold increase in LRRK2 kinase activity both in vitro and in vivo [16,17]. G2019S carriers exhibit a phenotype nearly indistinguishable from idiopathic PD, with a late onset and often with LBs pathology [18]. Accumulating evidence indicates that LRRK2 is associated with membrane compartments [19,20] where it phosphorylates key proteins involved in membrane remodeling [17,21,22] and regulates different processes including autophagylysosome pathway [23], vesicular trafficking and protein sorting [14,24].…”

Perfil Comportamental De Adolescentes Praticantes Do Judô E Futebol Em Projetos Sociais

“…al., 2011). A baixa ingestão dietética de substâncias antioxidantes pode contribuir também para o aumento das concentrações de espécies reativas no organismo, e assim, por estas razões, a manutenção do balanço em favor dos antioxidantes é de essencial importância para a integridade do cérebro (CHIEN et. al., 2014;MARCHIORO et.…”